Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A1471fs

TET2

2,192 papers

RefSeq Summary

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defect...

Pfam Domains

Tet_JBPaa 1290–1905UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 2

HGNC Previous Symbol

KIAA1546

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001127208.3
p.A1471fs
c.4411_4412fs
Surrounding Variants
1 paper
NM_001127208.3
p.K1472Q
c.4414A>C
1 paper
NM_001127208.3
p.K1472fs
c.4414_4415fs
2 papers
NM_001127208.3
p.E1470insFs
c.4408_4409insAA
1 paper
NM_001127208.3
p.E1470*
c.4408G>T
1 paper
NM_001127208.3
p.E1470delFs
c.4410delA
3 papers
NM_001127208.3
p.K1472R
c.4415A>G
1 paper
NM_001127208.3
p.K1473Q
c.4417A>C
1 paper
NM_001127208.3
p.L1469fs
c.4405_4406fs
1 paper
NM_001127208.3
p.K1473R
c.4418A>G
1 paper
NM_001127208.3
p.K1468R
c.4403A>G
1 paper
NM_001127208.3
p.K1468fs
c.4402_4403fs
5 papers
NM_001127208.3
p.K1468*
c.4402A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."